Variant report

Variant	rs12107175
Chromosome Location	chr3:144309975-144309976
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10490829	0.85[EUR][1000 genomes]
rs13059839	0.89[EUR][1000 genomes]
rs13064218	0.85[EUR][1000 genomes]
rs13068646	0.85[EUR][1000 genomes]
rs13068992	0.89[EUR][1000 genomes]
rs13075496	0.84[EUR][1000 genomes]
rs13078166	0.85[EUR][1000 genomes]
rs13084703	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13086374	0.85[EUR][1000 genomes]
rs16855622	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs16855668	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2010067	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2010077	0.91[EUR][1000 genomes]
rs34053264	0.85[EUR][1000 genomes]
rs34213147	0.89[EUR][1000 genomes]
rs34227150	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34636454	0.85[EUR][1000 genomes]
rs34666814	0.89[EUR][1000 genomes]
rs34911291	0.85[EUR][1000 genomes]
rs35090257	0.89[EUR][1000 genomes]
rs35320086	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs35324981	0.82[EUR][1000 genomes]
rs35516992	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35957809	0.85[EUR][1000 genomes]
rs36000128	0.89[EUR][1000 genomes]
rs55650825	0.85[EUR][1000 genomes]
rs57312086	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60851816	0.85[EUR][1000 genomes]
rs6776303	0.85[EUR][1000 genomes]
rs6783954	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6787553	0.85[EUR][1000 genomes]
rs6793949	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6796913	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71307975	0.85[EUR][1000 genomes]
rs71307977	0.85[EUR][1000 genomes]
rs71307981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71307982	0.85[EUR][1000 genomes]
rs71307983	0.85[EUR][1000 genomes]
rs71621113	0.84[EUR][1000 genomes]
rs7615388	0.85[EUR][1000 genomes]
rs7639413	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532633	chr3:143802417-144440646	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv591928	chr3:144050897-144822081	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv3379740	chr3:144225847-144433818	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1010388	chr3:144236022-144326640	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2757895	chr3:144236202-144391387	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2759185	chr3:144236202-144391387	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1013350	chr3:144239415-144326640	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv536754	chr3:144239415-144326640	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv877572	chr3:144244265-144312402	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv877573	chr3:144265840-144323993	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144305600-144312600	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr3:144307600-144310000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:144308600-144310800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr3:144309000-144310800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr3:144309000-144311200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr3:144309200-144310200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr3:144309200-144310400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr3:144309200-144310600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:144309200-144310600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:144309400-144310000	Enhancers	Osteobl	bone
11	chr3:144309400-144310200	Enhancers	NHDF-Ad	bronchial
12	chr3:144309400-144310400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:144309400-144310400	Enhancers	NHLF	lung
14	chr3:144309400-144310600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:144309600-144310000	Flanking Active TSS	NH-A	brain
16	chr3:144309600-144310200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:144309600-144310200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:144309600-144310200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:144309600-144310200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:144309600-144310200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:144309600-144310200	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr3:144309600-144310200	Enhancers	Brain Substantia Nigra	brain
23	chr3:144309600-144310400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr3:144309600-144310400	Flanking Active TSS	HUVEC	blood vessel
25	chr3:144309800-144310000	Enhancers	A549	lung
26	chr3:144309800-144310200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:144309800-144310200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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